WONOEP appraisal: Genetic insights into early onset epilepsies

Anne Quatraccioni¹, Silvia Cases-Cunillera², Ganna Balagura³, Matthew Coleman⁴, Laura Rossini⁵, James D Mills^{6

7

8}, Pablo M Casillas-Espinosa^{9

10

11}, Solomon L Moshé¹², Raman Sankar¹³, Stéphanie Baulac¹⁴, Jeffrey L Noebels¹⁵, Stéphane Auvin¹⁶, Terence J O'Brien^{17

18}, David C Henshall¹⁹, Özlem Akman²⁰, Aristea S Galanopoulou²¹

Affiliations

¹ Institute of Neuropathology, Section for Translational Epilepsy Research, Medical Faculty, University of Bonn, Bonn, Germany.
² Neuronal Signaling in Epilepsy and Glioma, Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Paris, France.
³ Department of Neuroscience, Ophthalmology, Maternal and Child Health, University of Genoa, Genoa, Italy.
⁴ Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁵ Epilepsy Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
⁶ Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, UK.
⁷ Chalfont Centre for Epilepsy, Chalfont St. Peter, UK.
⁸ Department of (Neuro)Pathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
⁹ Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria, Australia.
¹⁰ Department of Neurology, Alfred Hospital, Melbourne, Victoria, Australia.
¹¹ Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia.
¹² Isabelle Rapin Division of Child Neurology, Saul R. Korey Department of Neurology, and Department of Neuroscience and Pediatrics, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, USA.
¹³ Department of Neurology and Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
¹⁴ Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, Paris, France.
¹⁵ Departments of Neurology, Neuroscience, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
¹⁶ AP-HP, Hôpital Robert-Debré, INSERM NeuroDiderot, DMU Innov-RDB, Neurologie Pédiatrique, member of European Reference Network EpiCARE, Université Paris Cité and Institut Universitaire de France, Paris, France.
¹⁷ Department of Neuroscience, Alfred Hospital, Monash University, Melbourne, Victoria, Australia.
¹⁸ Department of Medicine (Royal Melbourne Hospital), University of Melbourne, Parkville, Victoria, Australia.
¹⁹ Department of Physiology and Medical Physics and FutureNeuro SFI Research Centre, RCSI University of Medicine and Health Sciences, Dublin, Ireland.
²⁰ Department of Physiology, Faculty of Medicine, Demiroglu Bilim University, Istanbul, Turkey.
²¹ Saul R. Korey Department of Neurology, Isabelle Rapin Division of Child Neurology, Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, USA.

PMID: 39302576
DOI: 10.1111/epi.18124

Review

WONOEP appraisal: Genetic insights into early onset epilepsies

Anne Quatraccioni et al. Epilepsia. 2024 Nov.

. 2024 Nov;65(11):3138-3154.

doi: 10.1111/epi.18124. Epub 2024 Sep 20.

Authors

Affiliations

¹ Institute of Neuropathology, Section for Translational Epilepsy Research, Medical Faculty, University of Bonn, Bonn, Germany.
² Neuronal Signaling in Epilepsy and Glioma, Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Paris, France.
³ Department of Neuroscience, Ophthalmology, Maternal and Child Health, University of Genoa, Genoa, Italy.
⁴ Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁵ Epilepsy Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
⁶ Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, UK.
⁷ Chalfont Centre for Epilepsy, Chalfont St. Peter, UK.
⁸ Department of (Neuro)Pathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
⁹ Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria, Australia.
¹⁰ Department of Neurology, Alfred Hospital, Melbourne, Victoria, Australia.
¹¹ Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia.
¹² Isabelle Rapin Division of Child Neurology, Saul R. Korey Department of Neurology, and Department of Neuroscience and Pediatrics, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, USA.
¹³ Department of Neurology and Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
¹⁴ Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, Paris, France.
¹⁵ Departments of Neurology, Neuroscience, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
¹⁶ AP-HP, Hôpital Robert-Debré, INSERM NeuroDiderot, DMU Innov-RDB, Neurologie Pédiatrique, member of European Reference Network EpiCARE, Université Paris Cité and Institut Universitaire de France, Paris, France.
¹⁷ Department of Neuroscience, Alfred Hospital, Monash University, Melbourne, Victoria, Australia.
¹⁸ Department of Medicine (Royal Melbourne Hospital), University of Melbourne, Parkville, Victoria, Australia.
¹⁹ Department of Physiology and Medical Physics and FutureNeuro SFI Research Centre, RCSI University of Medicine and Health Sciences, Dublin, Ireland.
²⁰ Department of Physiology, Faculty of Medicine, Demiroglu Bilim University, Istanbul, Turkey.
²¹ Saul R. Korey Department of Neurology, Isabelle Rapin Division of Child Neurology, Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, USA.

PMID: 39302576
DOI: 10.1111/epi.18124

Abstract

Early onset epilepsies occur in newborns and infants, and to date, genetic aberrations and variants have been identified in approximately one quarter of all patients. With technological sequencing advances and ongoing research, the genetic diagnostic yield for specific seizure disorders and epilepsies is expected to increase. Genetic variants associated with epilepsy include chromosomal abnormalities and rearrangements of various sizes as well as single gene variants. Among these variants, a distinction can be made between germline and somatic, with the latter being increasingly identified in epilepsies with focal cortical malformations in recent years. The identification of the underlying genetic mechanisms of epilepsy syndromes not only revolutionizes the diagnostic schemes but also leads to a better understanding of the diseases and their interrelationships, ultimately providing new opportunities for therapeutic targeting. At the XVI Workshop on Neurobiology of Epilepsy (WONOEP 2022, Talloires, France, July 2022), various etiologies, research models, and mechanisms of genetic early onset epilepsies were presented and discussed.

Keywords: brain mosaicism; chromosomal abnormalities; early onset epilepsy; germline and somatic variants; single gene variants.

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References

REFERENCES

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WONOEP appraisal: Genetic insights into early onset epilepsies

Affiliations

WONOEP appraisal: Genetic insights into early onset epilepsies

Authors

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical